Angelman Syndrome occurs when some of the genes in chromosome 15 are missing or have become defective. The nervous system is primarily affected by this genetic disorder, hence, causing a wide array of neurological problems, developmental delays and sleeping problems. Children affected with the condition have problems in speech, balance and walking. They typically have small heads and move awkwardly. Remarkably, they exhibit an unusually happy disposition.
Angelman syndrome can have a profound effect on the well-being not only of the person affected, but of the family as well because the condition requires lifetime care. Treatment is available to help both the patient and the family deal with the situation by addressing the developmental and learning deficiencies of the child as well as the medical problems associated with the syndrome. Treatment can greatly improve the overall quality of life of the patient and give him/her a measure of independence.
Causes of Angelman Syndrome
The absence of or flaws in some genes in the long arm of chromosome 15 is the reason behind Angelman Syndrome. Studies showed that the UBE3A gene is usually affected. This particular gene is involved in the production of ubiquitin protein ligase E3A – a type of protein that is essential for the normal functioning of the cells and nervous system as it removes unnecessary or damaged proteins within the cells. The maternal copy of the gene, or the one inherited from the mother, is usually affected.
The following conditions can give rise to Angelman Syndrome:
- UBE3A gene is missing or deleted
- UBE3A gene is defective
- Both copies of UBE3A gene come from the father
- The maternal copy of UBE3A gene acts like a paternal copy
The deletion of the UBE3A gene in the maternal copy of chromosome 15 is the reason behind an estimated 70% of AS cases; genetic mutation comprises around 11%; while 10% to 15% of reported AS cases have unknown causes.
Angelman Syndrome Facts (Incidence)
The syndrome had been estimated to affect 1 child out of 12,000 to 20,000 births. It is not detected at birth but only between the 6th and 12th month of the child’s life. Recognizable symptoms also start to appear 2 or 3 years after birth. Angelman Syndrome is a genetic disorder, but it is rarely inherited. Research shows that most children affected by AS do not have family history of the syndrome. Random genetic mutation or chromosomal abnormalities during the early stages of pregnancy are often the cause of the syndrome. Still, there is a chance of inheriting the defective gene, so the odds of having a child with AS is high among parents with a family history of the syndrome.
This genetic disorder was named after the English physician, Dr. Harry Angelman, in 1965. It was initially called Puppet Children or Happy Puppet Syndrome but was later renamed Angelman Syndrome because of the offense the former term caused to parents.
Symptoms of Angelman Syndrome
The deletion of the genetic material in the long chain of chromosome 15 results in universal symptoms among AS patients. These include:
- Developmental delays
Developmental issues, such as the inability to crawl or produce babbling sounds during the first 6 to 12 months of the child’s life, are the first notable symptoms of AS. Delays in walking and talking, as well as mental retardation, are also observed.
- Seizures and jerky movements
Seizures become more frequent during the ages 2 and 3. Other symptoms, such as jerky movements, tongue thrusting and walking with the arms held up, become more pronounced as well.
- Speech problems and unusually happy demeanor
Speech is severely affected making it difficult for the child to communicate with others. Meanwhile, tongue thrusting becomes so severe which results in feeding difficulties. Also notable among those with the syndrome is their extraordinarily happy demeanor, with the affected child constantly laughing and smiling.
- Sleep problems and hypopigmentation
Children with AS have difficulties in sleeping or staying asleep. They also suffer from hypopigmentation, a condition in which the hair, skin and eyes become light colored.
Early detection of the disorder is important to provide the timely physical, mental, emotional and medical support for the affected child and his/her family. Angelman Syndrome can have a huge impact on the person affected as it makes it difficult for him/her to communicate, understand and foster meaningful relationships with other people.
Angelman Syndrome Treatment
The proper treatment can help the AS patient have a certain degree of independence by addressing movement and walking problems through physical therapy. Speech and communication therapy, meanwhile, can improve the ability of the patient to communicate with others. Behavioral therapy can be employed to address behavioral problems and hyperactivity. Furthermore, anti-seizure medications are necessary to manage seizures.
The treatment for Angelman Syndrome is designed by a multidisciplinary team of medical experts and therapists. The treatment plan is specific to the patient based on the extent of developmental and neurological problems. With the appropriate treatment and strong parental support, children with AS can reach adulthood and perform simple routine activities.
Angelman Syndrome Pictures